Important It is possible that the main title of the report Abetalipoproteinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
low density B-lipoprotein deficiency
microsomal triglyceride transfer protein deficiency
Summary Abetalipoproteinemia is a rare inherited disorder of/affecting fat metabolism. Abnormalities in fat metabolism result in malabsorption of dietary fat and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed (acanthocytosis) resulting in low levels of circulating red blood cells (anemia). Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa. Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene.
Introduction Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as Bassen-Kornzweig syndrome. The disorder is sometimes classified as a neuroacanthocytosis syndrome, which refers to a group of disorders characterized by acanthocytosis and neurological disorders, especially movement disorders.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 10/24/2012 Copyright 2005, 2012 National Organization for Rare Disorders, Inc.
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